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rs104893994

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893994(C;C)
Make rs104893994(C;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position45547304
GeneRUNX2
is asnp
is mentioned by
dbSNPrs104893994
ebirs104893994
HLIrs104893994
Exacrs104893994
Varsomers104893994
Maprs104893994
PheGenIrs104893994
hapmaprs104893994
1000 genomesrs104893994
hgdprs104893994
ensemblrs104893994
gopubmedrs104893994
geneviewrs104893994
scholarrs104893994
googlers104893994
pharmgkbrs104893994
gwascentralrs104893994
openSNPrs104893994
23andMers104893994
23andMe allrs104893994
SNP Nexus

SNPshotrs104893994
SNPdbers104893994
MSV3drs104893994
GWAS Ctlgrs104893994
Max Magnitude0
OMIM600211
Desc
Variant0011
Relatedalso
ClinVar
Risk rs104893994(C;C)
Alt rs104893994(C;C)
Reference rs104893994(G;G)
Significance Pathogenic
Disease Cleidocranial dysostosis
Variation info
Gene RUNX2
CLNDBN Cleidocranial dysostosis
Reversed 0
HGVS NC_000006.11:g.45515041G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009889.3,